Mutagenetix > Incidental Mutation

Incidental Mutation 'R1563:Niban1'

170722

Institutional Source

Beutler Lab

Gene Symbol

Niban1

Ensembl Gene

ENSMUSG00000026483

Gene Name

niban apoptosis regulator 1

Synonyms

Fam129a, Niban

MMRRC Submission

039602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151447124-151596791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 151591424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 522 (Y522F)

Ref Sequence

ENSEMBL: ENSMUSP00000115822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097541] [ENSMUST00000148810]

AlphaFold

Q3UW53

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000086267

Predicted Effect

probably benign
Transcript: ENSMUST00000097541
AA Change: M574L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: M574L

Domain	Start	End	E-Value	Type
Blast:PH	70	197	2e-83	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148810
AA Change: Y522F

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: Y522F

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	67	118	1e-2	SMART
Blast:PH	70	197	1e-80	BLAST
low complexity region	540	549	N/A	INTRINSIC
low complexity region	699	714	N/A	INTRINSIC
low complexity region	784	797	N/A	INTRINSIC

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

98% (82/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,001,569 (GRCm39)	M22T	probably benign	Het
A930018M24Rik	A	G	14: 51,134,576 (GRCm39)	L22P	probably damaging	Het
Aipl1	A	T	11: 71,927,538 (GRCm39)	M59K	probably damaging	Het
Atg2b	T	C	12: 105,589,747 (GRCm39)	I1835V	probably damaging	Het
Cacna1i	A	T	15: 80,274,056 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,205,389 (GRCm39)	V115A	probably damaging	Het
Catsperb	T	A	12: 101,554,361 (GRCm39)	M685K	probably damaging	Het
Cdh10	T	A	15: 18,986,853 (GRCm39)	Y361*	probably null	Het
Clcn4	C	T	7: 7,296,981 (GRCm39)	C219Y	probably damaging	Het
Cpeb2	G	A	5: 43,443,080 (GRCm39)	V924M	probably damaging	Het
Cpxm2	T	C	7: 131,745,411 (GRCm39)	E138G	probably benign	Het
Dennd1a	T	C	2: 37,748,441 (GRCm39)	Y346C	probably damaging	Het
Dnah8	T	A	17: 30,854,638 (GRCm39)	L100Q	probably benign	Het
Dnajc6	A	C	4: 101,456,334 (GRCm39)	N76T	probably damaging	Het
Ehbp1	A	G	11: 22,009,231 (GRCm39)	L954P	probably damaging	Het
Eral1	A	T	11: 77,966,232 (GRCm39)	D315E	probably benign	Het
Fbln2	G	T	6: 91,240,365 (GRCm39)	E724*	probably null	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Fzd3	T	A	14: 65,473,173 (GRCm39)	E198D	probably damaging	Het
Fzd9	T	C	5: 135,279,408 (GRCm39)	N159S	probably damaging	Het
Galnt6	T	A	15: 100,601,259 (GRCm39)	Q340L	probably benign	Het
Gm20939	C	T	17: 95,184,522 (GRCm39)	A390V	probably damaging	Het
Gm5435	T	G	12: 82,542,464 (GRCm39)		noncoding transcript	Het
Gm9949	A	C	18: 62,317,089 (GRCm39)		probably benign	Het
Gprc5b	G	A	7: 118,582,984 (GRCm39)	T295I	probably benign	Het
Gria2	G	T	3: 80,598,704 (GRCm39)	Q777K	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haao	T	C	17: 84,142,318 (GRCm39)	T174A	probably benign	Het
Hes6	A	T	1: 91,340,858 (GRCm39)	M1K	probably null	Het
Hook3	G	T	8: 26,600,780 (GRCm39)	Q43K	probably benign	Het
Klhl35	T	C	7: 99,120,902 (GRCm39)	V390A	probably damaging	Het
Myh9	G	T	15: 77,656,057 (GRCm39)	T1151K	probably damaging	Het
Nbn	A	T	4: 15,981,668 (GRCm39)	I587F	possibly damaging	Het
Nek4	A	G	14: 30,704,408 (GRCm39)	D696G	probably damaging	Het
Nlrp2	T	C	7: 5,311,724 (GRCm39)	D52G	probably damaging	Het
Oit3	G	T	10: 59,263,896 (GRCm39)	R413S	probably damaging	Het
Or4k48	T	A	2: 111,476,027 (GRCm39)	H105L	probably damaging	Het
Or6c1b	A	G	10: 129,273,580 (GRCm39)	M300V	probably benign	Het
Otof	T	C	5: 30,528,349 (GRCm39)	T1870A	probably benign	Het
Pdgfd	T	C	9: 6,293,939 (GRCm39)		probably null	Het
Pitrm1	T	C	13: 6,613,506 (GRCm39)	V526A	possibly damaging	Het
Pknox1	T	C	17: 31,814,256 (GRCm39)	S194P	probably damaging	Het
Plekhg5	T	C	4: 152,181,266 (GRCm39)	S8P	probably benign	Het
Ppp1r13b	T	C	12: 111,807,416 (GRCm39)	E157G	probably damaging	Het
Psmd3	C	T	11: 98,585,051 (GRCm39)	R466W	probably damaging	Het
Ptgfrn	A	G	3: 100,967,967 (GRCm39)	F542S	possibly damaging	Het
Ptgs1	A	T	2: 36,135,214 (GRCm39)	M393L	possibly damaging	Het
Qpct	T	A	17: 79,371,492 (GRCm39)	S87T	probably benign	Het
Qtrt1	T	A	9: 21,330,607 (GRCm39)	V269D	probably benign	Het
Rassf9	C	G	10: 102,380,821 (GRCm39)	R68G	probably damaging	Het
Relch	A	G	1: 105,647,259 (GRCm39)	Y707C	probably damaging	Het
Rif1	A	G	2: 51,963,235 (GRCm39)	E25G	probably damaging	Het
Rnf213	T	C	11: 119,305,352 (GRCm39)	F528L	probably benign	Het
Sgip1	T	C	4: 102,823,457 (GRCm39)	S693P	probably benign	Het
She	A	G	3: 89,761,921 (GRCm39)	D460G	probably benign	Het
Sipa1l1	G	T	12: 82,387,935 (GRCm39)	V54L	probably benign	Het
Slc8a3	T	A	12: 81,251,781 (GRCm39)	D640V	possibly damaging	Het
Smurf1	T	A	5: 144,819,323 (GRCm39)	E601D	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Synpo2l	A	G	14: 20,711,346 (GRCm39)	S425P	probably damaging	Het
Tbck	T	C	3: 132,421,454 (GRCm39)	V187A	possibly damaging	Het
Tcf23	A	T	5: 31,126,175 (GRCm39)	H18L	probably benign	Het
Tcp11l2	A	G	10: 84,420,808 (GRCm39)	S16G	probably damaging	Het
Tekt2	T	A	4: 126,217,200 (GRCm39)	M233L	probably benign	Het
Tex14	T	C	11: 87,427,634 (GRCm39)	S29P	probably damaging	Het
Tjp2	T	A	19: 24,110,067 (GRCm39)	N59I	probably damaging	Het
Tlr5	G	A	1: 182,802,575 (GRCm39)	M626I	probably benign	Het
Tnn	A	T	1: 159,952,985 (GRCm39)	V685D	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trhr	G	A	15: 44,060,497 (GRCm39)	V6I	probably benign	Het
Trim30c	C	T	7: 104,032,158 (GRCm39)	R301Q	probably benign	Het
Usp51	T	C	X: 151,790,988 (GRCm39)	I194T	probably benign	Het
Vmn2r63	A	G	7: 42,553,550 (GRCm39)	S569P	probably benign	Het
Vps26a	T	G	10: 62,300,459 (GRCm39)	I236L	probably benign	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zcchc14	T	C	8: 122,330,718 (GRCm39)	M882V	probably benign	Het
Zfhx2	A	G	14: 55,302,545 (GRCm39)	V1813A	probably benign	Het
Zswim2	C	T	2: 83,745,626 (GRCm39)	G604D	possibly damaging	Het
Zzef1	C	T	11: 72,739,559 (GRCm39)	Q669*	probably null	Het

Other mutations in Niban1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Niban1	APN	1	151,593,472 (GRCm39)	missense	probably benign	0.06
IGL01690:Niban1	APN	1	151,579,555 (GRCm39)	missense	probably damaging	1.00
IGL01762:Niban1	APN	1	151,512,242 (GRCm39)	missense	probably damaging	1.00
IGL01784:Niban1	APN	1	151,525,116 (GRCm39)	missense	probably damaging	1.00
IGL01938:Niban1	APN	1	151,565,365 (GRCm39)	missense	probably benign	0.22
IGL02427:Niban1	APN	1	151,593,025 (GRCm39)	missense	probably damaging	1.00
IGL02617:Niban1	APN	1	151,447,296 (GRCm39)	missense	probably benign	0.11
IGL02946:Niban1	APN	1	151,525,176 (GRCm39)	missense	probably damaging	0.99
R0242:Niban1	UTSW	1	151,593,967 (GRCm39)	missense	probably benign	0.00
R0242:Niban1	UTSW	1	151,593,967 (GRCm39)	missense	probably benign	0.00
R0279:Niban1	UTSW	1	151,584,957 (GRCm39)	critical splice donor site	probably null
R0421:Niban1	UTSW	1	151,584,833 (GRCm39)	splice site	probably benign
R0531:Niban1	UTSW	1	151,593,835 (GRCm39)	missense	probably benign	0.11
R0725:Niban1	UTSW	1	151,581,766 (GRCm39)	missense	probably benign	0.04
R1493:Niban1	UTSW	1	151,581,841 (GRCm39)	missense	probably damaging	1.00
R1868:Niban1	UTSW	1	151,517,302 (GRCm39)	missense	possibly damaging	0.71
R1944:Niban1	UTSW	1	151,571,979 (GRCm39)	missense	probably damaging	0.99
R1945:Niban1	UTSW	1	151,571,979 (GRCm39)	missense	probably damaging	0.99
R2071:Niban1	UTSW	1	151,512,181 (GRCm39)	missense	probably damaging	1.00
R2126:Niban1	UTSW	1	151,584,884 (GRCm39)	missense	possibly damaging	0.94
R2126:Niban1	UTSW	1	151,571,886 (GRCm39)	missense	probably damaging	1.00
R2138:Niban1	UTSW	1	151,572,002 (GRCm39)	missense	probably damaging	0.98
R2180:Niban1	UTSW	1	151,593,829 (GRCm39)	missense	probably benign	0.02
R2402:Niban1	UTSW	1	151,565,365 (GRCm39)	missense	probably benign	0.22
R3689:Niban1	UTSW	1	151,579,447 (GRCm39)	splice site	probably null
R3783:Niban1	UTSW	1	151,565,399 (GRCm39)	missense	possibly damaging	0.66
R3975:Niban1	UTSW	1	151,525,086 (GRCm39)	missense	probably damaging	1.00
R4029:Niban1	UTSW	1	151,571,441 (GRCm39)	missense	probably benign	0.00
R4328:Niban1	UTSW	1	151,512,169 (GRCm39)	missense	possibly damaging	0.86
R4447:Niban1	UTSW	1	151,512,153 (GRCm39)	critical splice acceptor site	probably null
R4573:Niban1	UTSW	1	151,579,517 (GRCm39)	missense	possibly damaging	0.85
R4774:Niban1	UTSW	1	151,591,445 (GRCm39)	missense	probably damaging	1.00
R5064:Niban1	UTSW	1	151,565,410 (GRCm39)	missense	probably benign	0.05
R5077:Niban1	UTSW	1	151,590,274 (GRCm39)	missense	probably benign	0.00
R5187:Niban1	UTSW	1	151,579,580 (GRCm39)	missense	possibly damaging	0.50
R5484:Niban1	UTSW	1	151,593,837 (GRCm39)	missense	probably benign	0.08
R5553:Niban1	UTSW	1	151,592,986 (GRCm39)	missense	probably damaging	0.99
R5572:Niban1	UTSW	1	151,584,941 (GRCm39)	missense	probably benign	0.05
R5575:Niban1	UTSW	1	151,593,991 (GRCm39)	missense	probably benign	0.31
R5586:Niban1	UTSW	1	151,593,307 (GRCm39)	missense	probably benign	0.00
R5697:Niban1	UTSW	1	151,576,012 (GRCm39)	missense	probably damaging	1.00
R6305:Niban1	UTSW	1	151,571,469 (GRCm39)	missense	probably damaging	1.00
R7065:Niban1	UTSW	1	151,575,858 (GRCm39)	critical splice acceptor site	probably null
R7126:Niban1	UTSW	1	151,590,318 (GRCm39)	nonsense	probably null
R7392:Niban1	UTSW	1	151,571,975 (GRCm39)	missense	probably damaging	1.00
R7571:Niban1	UTSW	1	151,594,048 (GRCm39)	missense	probably benign	0.01
R7577:Niban1	UTSW	1	151,594,063 (GRCm39)	missense	probably benign
R7939:Niban1	UTSW	1	151,581,775 (GRCm39)	missense	probably damaging	1.00
R8018:Niban1	UTSW	1	151,593,006 (GRCm39)	nonsense	probably null
R8164:Niban1	UTSW	1	151,593,339 (GRCm39)	missense	probably benign	0.02
R8356:Niban1	UTSW	1	151,571,901 (GRCm39)	missense	probably damaging	1.00
R8478:Niban1	UTSW	1	151,512,263 (GRCm39)	missense	possibly damaging	0.77
R8833:Niban1	UTSW	1	151,520,681 (GRCm39)	missense	probably damaging	1.00
R8847:Niban1	UTSW	1	151,575,929 (GRCm39)	missense	probably damaging	1.00
R8854:Niban1	UTSW	1	151,584,950 (GRCm39)	missense	probably damaging	1.00
R8960:Niban1	UTSW	1	151,591,463 (GRCm39)	missense	possibly damaging	0.92
R9616:Niban1	UTSW	1	151,512,193 (GRCm39)	missense	probably damaging	1.00
R9684:Niban1	UTSW	1	151,593,538 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGTACCCTCTGATCGCTTGCCC -3'
(R):5'- AGCCTTCCCGAGTCCGATTTCTA -3'

Sequencing Primer
(F):5'- cctcaactaactcccatccc -3'
(R):5'- AGACGTTCTCAACGTGGATC -3'

Posted On

2014-04-13